Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis
Hereditary Hemorrhagic Telangiectasia (HHT) or Rendu–Osler–Weber Syndrome (ROW) is an autosomal dominant vascular disease, with an estimated prevalence of 1:5000. Genes associated with HHT are <i>ACVRL1</i>, <i>ENG</i>, <i>SMAD4</i>, and <i>GDF2</i>, a...
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| Format: | Article |
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MDPI AG
2023-02-01
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| Series: | Pediatric Reports |
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| Online Access: | https://www.mdpi.com/2036-7503/15/1/11 |
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| author | Cesare Danesino Claudia Cantarini Carla Olivieri |
| author_facet | Cesare Danesino Claudia Cantarini Carla Olivieri |
| author_sort | Cesare Danesino |
| collection | DOAJ |
| description | Hereditary Hemorrhagic Telangiectasia (HHT) or Rendu–Osler–Weber Syndrome (ROW) is an autosomal dominant vascular disease, with an estimated prevalence of 1:5000. Genes associated with HHT are <i>ACVRL1</i>, <i>ENG</i>, <i>SMAD4</i>, and <i>GDF2</i>, all encoding for proteins involved in the TGFβ/BMPs signaling pathway. The clinical diagnosis of HHT is made according to the “Curaçao Criteria,” based on the main features of the disease: recurrent and spontaneous epistaxis, muco-cutaneous telangiectases, arteriovenous malformations in the lungs, liver, and brain, and familiarity. Since the clinical signs of HHT can be misinterpreted, and the primary symptom of HHT, epistaxis, is common in the general population, the disease is underdiagnosed. Although HHT exhibits a complete penetrance after the age of 40, young subjects may also present symptoms of the disease and are at risk of severe complications. Here we review the literature reporting data from clinical, diagnostic, and molecular studies on the HHT pediatric population. |
| first_indexed | 2024-03-11T06:03:27Z |
| format | Article |
| id | doaj.art-a1c28f9b63144cd3a9ce844a7ba9544b |
| institution | Directory Open Access Journal |
| issn | 2036-7503 |
| language | English |
| last_indexed | 2024-03-11T06:03:27Z |
| publishDate | 2023-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Pediatric Reports |
| spelling | doaj.art-a1c28f9b63144cd3a9ce844a7ba9544b2023-11-17T13:11:07ZengMDPI AGPediatric Reports2036-75032023-02-0115112914210.3390/pediatric15010011Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and DiagnosisCesare Danesino0Claudia Cantarini1Carla Olivieri2General Biology and Medical Genetics Unit, Department of Molecular Medicine, University of Pavia, 27100 Pavia, ItalyGeneral Biology and Medical Genetics Unit, Department of Molecular Medicine, University of Pavia, 27100 Pavia, ItalyGeneral Biology and Medical Genetics Unit, Department of Molecular Medicine, University of Pavia, 27100 Pavia, ItalyHereditary Hemorrhagic Telangiectasia (HHT) or Rendu–Osler–Weber Syndrome (ROW) is an autosomal dominant vascular disease, with an estimated prevalence of 1:5000. Genes associated with HHT are <i>ACVRL1</i>, <i>ENG</i>, <i>SMAD4</i>, and <i>GDF2</i>, all encoding for proteins involved in the TGFβ/BMPs signaling pathway. The clinical diagnosis of HHT is made according to the “Curaçao Criteria,” based on the main features of the disease: recurrent and spontaneous epistaxis, muco-cutaneous telangiectases, arteriovenous malformations in the lungs, liver, and brain, and familiarity. Since the clinical signs of HHT can be misinterpreted, and the primary symptom of HHT, epistaxis, is common in the general population, the disease is underdiagnosed. Although HHT exhibits a complete penetrance after the age of 40, young subjects may also present symptoms of the disease and are at risk of severe complications. Here we review the literature reporting data from clinical, diagnostic, and molecular studies on the HHT pediatric population.https://www.mdpi.com/2036-7503/15/1/11hereditary hemorrhagic telangiectasiaHHTpediatric agerare disease |
| spellingShingle | Cesare Danesino Claudia Cantarini Carla Olivieri Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis Pediatric Reports hereditary hemorrhagic telangiectasia HHT pediatric age rare disease |
| title | Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis |
| title_full | Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis |
| title_fullStr | Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis |
| title_full_unstemmed | Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis |
| title_short | Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis |
| title_sort | hereditary hemorrhagic telangiectasia in pediatric age focus on genetics and diagnosis |
| topic | hereditary hemorrhagic telangiectasia HHT pediatric age rare disease |
| url | https://www.mdpi.com/2036-7503/15/1/11 |
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